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PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 5, p. 1, doi. 10.15252/emmm.201708515
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- Article
Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3664, doi. 10.3390/ijms24043664
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- Article
New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2559, doi. 10.3390/ijms24032559
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- Article
Bypassing Mendel's First Law: Transmission Ratio Distortion in Mammals.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 1600, doi. 10.3390/ijms24021600
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- Article
FISH and Chimps: Insights into Frequency and Distribution of Sperm Aneuploidy in Chimpanzees (Pan troglodytes).
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- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10383, doi. 10.3390/ijms221910383
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- Article
Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2187, doi. 10.3390/ijms22042187
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- Article
Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome.
- Published in:
- 2021
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- Publication type:
- Correction Notice
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1031, doi. 10.1007/s00439-021-02270-7
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- Article
The genetic architecture of morphological abnormalities of the sperm tail.
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- Human Genetics, 2021, v. 140, n. 1, p. 21, doi. 10.1007/s00439-020-02113-x
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- Article
Male Infertility: Genetics, Mechanism, and Therapies.
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- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/7372362
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- Article
Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum.
- Published in:
- Basic & Clinical Andrology, 2019, v. 29, n. 1, p. N.PAG, doi. 10.1186/s12610-019-0083-9
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- Article
Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature.
- Published in:
- Basic & Clinical Andrology, 2018, v. 28, n. 1, p. N.PAG, doi. 10.1186/s12610-018-0069-z
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- Publication type:
- Article
Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY 19L2-deficient sperm are consistent with its role in oocyte activation.
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- Molecular Human Reproduction, 2015, v. 21, n. 2, p. 157, doi. 10.1093/molehr/gau098
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- Publication type:
- Article
Dpy1912-deficient globozoospermic spermdisplay altered genome packaging and DNA damage that compromises the initiation of embryo development.
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- Molecular Human Reproduction, 2015, v. 21, n. 2, p. 169, doi. 10.1093/molehr/gau099
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- Publication type:
- Article
Array-CGH in children with mild intellectual disability: a population-based study.
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- European Journal of Pediatrics, 2015, v. 174, n. 1, p. 75, doi. 10.1007/s00431-014-2367-6
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- Article
Interphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring.
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- Clinical Chemistry & Laboratory Medicine, 2013, v. 51, n. 4, p. e41, doi. 10.1515/cclm-2012-0416
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- Publication type:
- Article
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 445, doi. 10.1002/ajmg.a.63041
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- Publication type:
- Article
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 52, doi. 10.1002/ajmg.a.62983
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- Article
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3492, doi. 10.1002/ajmg.a.62976
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- Publication type:
- Article
Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 650, doi. 10.1002/ajmg.a.61057
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- Article
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2847, doi. 10.1002/ajmg.a.37878
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- Publication type:
- Article
Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 498, doi. 10.1002/ajmg.a.37450
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- Publication type:
- Article
7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2133, doi. 10.1002/ajmg.a.36566
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- Publication type:
- Article
Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1530, doi. 10.1002/ajmg.a.36467
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- Publication type:
- Article
17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2564, doi. 10.1002/ajmg.a.35553
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- Article
Génétique de l’infertilité masculine: Les nouveaux acteurs.
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- Médecine Sciences, 2012, v. 28, n. 5, p. 497, doi. 10.1051/medsci/2012285014
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- Article
PROK1 Level in the Follicular Microenvironment: A New Noninvasive Predictive Biomarker of Embryo Implantation.
- Published in:
- 2016
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- Publication type:
- journal article
Oligogenic heterozygous inheritance of sperm abnormalities in mouse.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.75373
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- Article
Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
- Published in:
- Andrology, 2022, v. 10, n. 8, p. 1625, doi. 10.1111/andr.13279
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- Publication type:
- Article
Functional and genetic characterization of two extremely rare cases of Williams-Beuren Syndrome associated with chronic granulomatous disease.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1079, doi. 10.1038/ejhg.2012.310
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- Article
CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report.
- Published in:
- 2019
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- Publication type:
- journal article
Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
- Published in:
- 2016
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- Publication type:
- journal article
Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.
- Published in:
- 2016
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- Publication type:
- journal article
Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia.
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- Human Reproduction, 2012, v. 27, n. 11, p. 3337, doi. 10.1093/humrep/des296
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- Article
MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.
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- Human Reproduction, 2012, v. 27, n. 8, p. 2549, doi. 10.1093/humrep/des160
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- Publication type:
- Article
Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
- Published in:
- eLife, 2024, p. 1, doi. 10.7554/eLife.86845
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- Publication type:
- Article
New insights in Cercopithecinae spermatozoa.
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- Zygote, 2021, v. 29, n. 5, p. 401, doi. 10.1017/S0967199421000186
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- Article
From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene.
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- Asian Journal of Andrology, 2022, v. 24, n. 3, p. 243, doi. 10.4103/aja202194
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- Publication type:
- Article
Commentary on "morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China".
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- Asian Journal of Andrology, 2016, v. 18, n. 5, p. 812, doi. 10.4103/1008-682X.164195
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- Publication type:
- Article
Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.
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- Asian Journal of Andrology, 2015, v. 17, n. 1, p. 68, doi. 10.4103/1008-682X.13644
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- Publication type:
- Article
Techniques et méthodologies du diagnostic pré-implantatoire des aneuploïdies.
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- Médecine de la Reproduction, 2018, v. 20, n. 4, p. 272, doi. 10.1684/mte.2019.0729
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- Publication type:
- Article
Deslorelin acetate implant induces transient sterility and behavior changes in male olive baboon (Papio anubis): A case study.
- Published in:
- Journal of Medical Primatology, 2020, v. 49, n. 6, p. 344, doi. 10.1111/jmp.12479
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- Publication type:
- Article
Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication.
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- Clinical Genetics, 2024, v. 106, n. 3, p. 234, doi. 10.1111/cge.14525
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- Article
A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 2, p. 220, doi. 10.1111/cge.14450
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- Publication type:
- Article
Expanding the sperm phenotype caused by mutations in SPATA20: A novel splicing mutation in an infertile patient with partial globozoospermia.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 5, p. 612, doi. 10.1111/cge.14284
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- Publication type:
- Article
Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 117, doi. 10.1111/cge.14141
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- Publication type:
- Article
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 307, doi. 10.1111/cge.14096
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- Publication type:
- Article
The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 684, doi. 10.1111/cge.13927
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- Publication type:
- Article
Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 5, p. 394, doi. 10.1111/cge.13604
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- Article
Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 575, doi. 10.1111/cge.13449
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- Publication type:
- Article